A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599962



Internal ID16040685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150777798..150937675hg38UCSC Ensembl
Innerchr5:150157360..150317237hg19UCSC Ensembl
Innerchr5:150137553..150297430hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38159878
hg19159878
hg18159878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10114n54
Supporting Variantsnssv1043288
Samples
Known GenesIRGM, SMIM3, ZNF300, ZNF300P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599962
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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